Linked Life Data

15543018

Source:http://linkedlifedata.com/resource/pubmed/id/15543018

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
11
pubmed:dateCreated
2004-11-15
pubmed:abstractText
Sickle hemoglobin (Hb S; beta Glu6Val) is due to an A<T transversion in codon 6 of the beta-globin gene. Several Hb S variants have both the Hb S mutation plus another mutation in the same beta-globin gene. Some of these variant hemoglobins can lead to sickle cell disease even in the simple heterozygote. Moreover, some variant hemoglobins mimic Hb A, S, or C on one or several clinical laboratory diagnostic tools, thus making their correct identification potentially problematic. The authors report a novel Hb S variant hemoglobin, Hb S-South End (beta Glu6Val, GAG>GTG; beta Lys132Asn, AAA>AAC). When present alone, the beta Lys132Asn mutation has low oxygen affinity. Therefore, this mutation may enhance the polymerization of the Hb S variant. Furthermore, the variant hemoglobin mimics Hb A on high-pressure liquid chromatography, and its identity is not easily diagnosed. A succinct review of variant sickle hemoglobins is also presented.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
1077-4114
pubmed:author
pubmed:issnType
Print
pubmed:volume
26
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
773-6
pubmed:dateRevised
2011-10-6
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
A novel sickle hemoglobin: hemoglobin S-south end.
pubmed:affiliation
Hemoglobin Diagnostic Reference Laboratory, Boston Medical Center, Boston, Massachusetts, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Case Reports